Incidental Mutation 'IGL02477:Fam171a1'
ID 294987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam171a1
Ensembl Gene ENSMUSG00000050530
Gene Name family with sequence similarity 171, member A1
Synonyms 9630050M13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL02477
Quality Score
Status
Chromosome 2
Chromosomal Location 3115261-3228843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3203612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 198 (V198A)
Ref Sequence ENSEMBL: ENSMUSP00000053619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062934] [ENSMUST00000072955] [ENSMUST00000091505] [ENSMUST00000115099]
AlphaFold A2ATK9
Predicted Effect possibly damaging
Transcript: ENSMUST00000062934
AA Change: V198A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: V198A

DomainStartEndE-ValueType
Pfam:UPF0560 29 885 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000072955
AA Change: V78A

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: V78A

DomainStartEndE-ValueType
Pfam:UPF0560 1 765 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000091505
AA Change: V203A

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
AA Change: V203A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:UPF0560 34 294 3.1e-146 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115099
AA Change: V203A

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: V203A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:UPF0560 34 890 N/A PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Fam171a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Fam171a1 APN 2 3,179,327 (GRCm39) missense possibly damaging 0.90
IGL01138:Fam171a1 APN 2 3,203,657 (GRCm39) missense possibly damaging 0.80
IGL01317:Fam171a1 APN 2 3,203,663 (GRCm39) missense probably damaging 1.00
IGL02377:Fam171a1 APN 2 3,224,623 (GRCm39) critical splice donor site probably null
IGL02475:Fam171a1 APN 2 3,224,527 (GRCm39) missense possibly damaging 0.53
ghosted UTSW 2 3,226,189 (GRCm39) nonsense probably null
R0167:Fam171a1 UTSW 2 3,187,469 (GRCm39) missense probably damaging 1.00
R0426:Fam171a1 UTSW 2 3,226,433 (GRCm39) missense probably benign
R0468:Fam171a1 UTSW 2 3,226,433 (GRCm39) missense probably benign
R0811:Fam171a1 UTSW 2 3,198,464 (GRCm39) missense probably damaging 1.00
R0812:Fam171a1 UTSW 2 3,198,464 (GRCm39) missense probably damaging 1.00
R1099:Fam171a1 UTSW 2 3,226,354 (GRCm39) missense probably benign 0.24
R1694:Fam171a1 UTSW 2 3,226,660 (GRCm39) missense probably benign 0.00
R1817:Fam171a1 UTSW 2 3,179,410 (GRCm39) missense probably benign 0.04
R1869:Fam171a1 UTSW 2 3,227,189 (GRCm39) missense possibly damaging 0.53
R1887:Fam171a1 UTSW 2 3,221,380 (GRCm39) missense probably damaging 1.00
R2173:Fam171a1 UTSW 2 3,226,656 (GRCm39) nonsense probably null
R2355:Fam171a1 UTSW 2 3,226,570 (GRCm39) nonsense probably null
R3690:Fam171a1 UTSW 2 3,227,393 (GRCm39) missense probably benign
R3723:Fam171a1 UTSW 2 3,221,412 (GRCm39) splice site probably benign
R3978:Fam171a1 UTSW 2 3,226,072 (GRCm39) missense probably benign
R4087:Fam171a1 UTSW 2 3,227,333 (GRCm39) missense probably damaging 0.97
R4647:Fam171a1 UTSW 2 3,221,328 (GRCm39) missense probably damaging 0.98
R4744:Fam171a1 UTSW 2 3,225,946 (GRCm39) missense probably damaging 1.00
R4777:Fam171a1 UTSW 2 3,224,550 (GRCm39) missense probably benign 0.03
R4786:Fam171a1 UTSW 2 3,226,615 (GRCm39) missense probably damaging 1.00
R4888:Fam171a1 UTSW 2 3,224,546 (GRCm39) missense probably damaging 0.98
R4982:Fam171a1 UTSW 2 3,179,505 (GRCm39) splice site probably null
R5137:Fam171a1 UTSW 2 3,226,426 (GRCm39) missense probably benign 0.01
R5203:Fam171a1 UTSW 2 3,224,582 (GRCm39) missense probably damaging 0.99
R5233:Fam171a1 UTSW 2 3,179,390 (GRCm39) missense probably damaging 1.00
R5304:Fam171a1 UTSW 2 3,226,654 (GRCm39) missense probably damaging 1.00
R5475:Fam171a1 UTSW 2 3,226,334 (GRCm39) missense possibly damaging 0.91
R5682:Fam171a1 UTSW 2 3,227,126 (GRCm39) missense probably damaging 1.00
R5865:Fam171a1 UTSW 2 3,226,374 (GRCm39) missense probably benign 0.01
R6322:Fam171a1 UTSW 2 3,227,392 (GRCm39) missense probably benign 0.24
R7082:Fam171a1 UTSW 2 3,224,512 (GRCm39) missense probably benign 0.00
R7141:Fam171a1 UTSW 2 3,226,189 (GRCm39) nonsense probably null
R7155:Fam171a1 UTSW 2 3,226,766 (GRCm39) missense probably benign 0.10
R7243:Fam171a1 UTSW 2 3,119,653 (GRCm39) missense probably benign 0.07
R7326:Fam171a1 UTSW 2 3,227,509 (GRCm39) nonsense probably null
R7477:Fam171a1 UTSW 2 3,226,676 (GRCm39) missense probably benign 0.03
R7574:Fam171a1 UTSW 2 3,221,391 (GRCm39) missense probably damaging 1.00
R7745:Fam171a1 UTSW 2 3,226,483 (GRCm39) missense possibly damaging 0.53
R7753:Fam171a1 UTSW 2 3,179,354 (GRCm39) missense probably damaging 0.98
R7871:Fam171a1 UTSW 2 3,226,421 (GRCm39) missense probably benign 0.12
R7958:Fam171a1 UTSW 2 3,179,298 (GRCm39) missense probably damaging 1.00
R8677:Fam171a1 UTSW 2 3,221,352 (GRCm39) missense probably damaging 0.98
R8793:Fam171a1 UTSW 2 3,187,535 (GRCm39) missense probably damaging 1.00
R8850:Fam171a1 UTSW 2 3,221,344 (GRCm39) missense probably damaging 1.00
R8865:Fam171a1 UTSW 2 3,226,940 (GRCm39) missense probably damaging 1.00
R9016:Fam171a1 UTSW 2 3,227,434 (GRCm39) missense probably benign 0.43
R9090:Fam171a1 UTSW 2 3,224,543 (GRCm39) missense probably damaging 1.00
R9251:Fam171a1 UTSW 2 3,226,525 (GRCm39) missense probably benign 0.06
R9271:Fam171a1 UTSW 2 3,224,543 (GRCm39) missense probably damaging 1.00
R9350:Fam171a1 UTSW 2 3,226,037 (GRCm39) missense probably benign 0.12
X0019:Fam171a1 UTSW 2 3,226,630 (GRCm39) missense probably benign 0.19
Z1177:Fam171a1 UTSW 2 3,225,971 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16